Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111731_11111733delinsCAT , CM000681.2:g.11111731_11111733delinsCAT	GRCh38
NC_000019.9:g.11222407_11222409delinsCAT , CM000681.1:g.11222407_11222409delinsCAT	GRCh37
NC_000019.8:g.11083407_11083409delinsCAT	NCBI36
NG_009060.1:g.27351_27353delinsCAT , LRG_274:g.27351_27353delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+92_1444+94delinsCAT	ENSP00000252444.6:n.1444+92_1444+94delinsCAT
ENST00000559340.2:c.1186+92_1186+94delinsCAT	ENSP00000453696.2:n.1186+92_1186+94delinsCAT
ENST00000560467.2:c.1066+92_1066+94delinsCAT	ENSP00000453513.2:n.1066+92_1066+94delinsCAT
ENST00000558518.6:c.1186+92_1186+94delinsCAT MANE Select	ENSP00000454071.1:n.1186+92_1186+94delinsCAT
ENST00000252444.9:c.1440+92_1440+94delinsCAT
ENST00000455727.6:c.682+92_682+94delinsCAT	ENSP00000397829.2:n.682+92_682+94delinsCAT
ENST00000535915.5:c.1063+92_1063+94delinsCAT	ENSP00000440520.1:n.1063+92_1063+94delinsCAT
ENST00000545707.5:c.805+92_805+94delinsCAT	ENSP00000437639.1:n.805+92_805+94delinsCAT
ENST00000557933.5:c.1186+92_1186+94delinsCAT	ENSP00000453557.1:n.1186+92_1186+94delinsCAT
ENST00000558013.5:c.1186+92_1186+94delinsCAT	ENSP00000453346.1:n.1186+92_1186+94delinsCAT
ENST00000558518.5:c.1186+92_1186+94delinsCAT	ENSP00000454071.1:n.1186+92_1186+94delinsCAT
ENST00000560173.1:n.185+92_185+94delinsCAT
ENST00000560467.1:c.666+92_666+94delinsCAT
NM_000527.4:c.1186+92_1186+94delinsCAT , LRG_274t1:c.1186+92_1186+94delinsCAT	NP_000518.1:n.1186+92_1186+94delinsCAT
NM_001195798.1:c.1186+92_1186+94delinsCAT	NP_001182727.1:n.1186+92_1186+94delinsCAT
NM_001195799.1:c.1063+92_1063+94delinsCAT	NP_001182728.1:n.1063+92_1063+94delinsCAT
NM_001195800.1:c.682+92_682+94delinsCAT	NP_001182729.1:n.682+92_682+94delinsCAT
NM_001195803.1:c.805+92_805+94delinsCAT	NP_001182732.1:n.805+92_805+94delinsCAT
XM_011528010.1:c.1186+92_1186+94delinsCAT	XP_011526312.1:n.1186+92_1186+94delinsCAT
XM_011528011.1:c.805+92_805+94delinsCAT	XP_011526313.1:n.805+92_805+94delinsCAT
XR_244074.2:n.1336+92_1336+94delinsCAT
XM_011528010.2:c.1186+92_1186+94delinsCAT	XP_011526312.1:n.1186+92_1186+94delinsCAT
XR_001753685.2:n.1303+92_1303+94delinsCAT
XR_001753686.2:n.1303+92_1303+94delinsCAT
NM_000527.5:c.1186+92_1186+94delinsCAT MANE Select	NP_000518.1:n.1186+92_1186+94delinsCAT
NM_001195798.2:c.1186+92_1186+94delinsCAT	NP_001182727.1:n.1186+92_1186+94delinsCAT
NM_001195799.2:c.1063+92_1063+94delinsCAT	NP_001182728.1:n.1063+92_1063+94delinsCAT
NM_001195800.2:c.682+92_682+94delinsCAT	NP_001182729.1:n.682+92_682+94delinsCAT
NM_001195803.2:c.805+92_805+94delinsCAT	NP_001182732.1:n.805+92_805+94delinsCAT